Incidental Mutation 'R9462:Slc4a4'
| ID |
714925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc4a4
|
| Ensembl Gene |
ENSMUSG00000060961 |
| Gene Name |
solute carrier family 4 (anion exchanger), member 4 |
| Synonyms |
NBC, NBC1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
89034345-89387512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89194131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 204
(V204I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113216]
[ENSMUST00000113218]
[ENSMUST00000130041]
[ENSMUST00000134303]
[ENSMUST00000148750]
[ENSMUST00000156238]
|
| AlphaFold |
O88343 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113216
|
| SMART Domains |
Protein: ENSMUSP00000108842
Gene: ENSMUSG00000060961
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Band_3_cyto
|
93 |
149 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113218
AA Change: V204I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108844
Gene: ENSMUSG00000060961
AA Change: V204I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
87 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
137 |
379 |
1.1e-100 |
PFAM |
|
low complexity region
|
408 |
423 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
426 |
947 |
3e-246 |
PFAM |
|
transmembrane domain
|
953 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1015 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130041
AA Change: V160I
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118413
Gene: ENSMUSG00000060961
AA Change: V160I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Band_3_cyto
|
93 |
344 |
1.5e-101 |
PFAM |
|
low complexity region
|
373 |
388 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
391 |
912 |
2.7e-246 |
PFAM |
|
transmembrane domain
|
918 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
964 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134303
AA Change: V160I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119976
Gene: ENSMUSG00000060961
AA Change: V160I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Band_3_cyto
|
93 |
233 |
1.4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148750
AA Change: V204I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119325
Gene: ENSMUSG00000060961
AA Change: V204I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
87 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
137 |
388 |
3.7e-101 |
PFAM |
|
low complexity region
|
417 |
432 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
435 |
956 |
7.3e-246 |
PFAM |
|
transmembrane domain
|
962 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1024 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156238
AA Change: V204I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121744
Gene: ENSMUSG00000060961
AA Change: V204I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
87 |
N/A |
INTRINSIC |
|
Pfam:Band_3_cyto
|
137 |
388 |
4.6e-101 |
PFAM |
|
low complexity region
|
417 |
432 |
N/A |
INTRINSIC |
|
Pfam:HCO3_cotransp
|
436 |
956 |
4.1e-231 |
PFAM |
|
transmembrane domain
|
962 |
984 |
N/A |
INTRINSIC |
|
low complexity region
|
1008 |
1024 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit smaller birth size, growth retardation, postnatal lethality, bowel obstructions, altered blood chemistry, acidosis, spleen defects and defects in ion homeostasis. Heterozygotes have decreased levels of circulating bicarbonate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,092,964 (GRCm39) |
T220I |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,844,433 (GRCm39) |
H928L |
|
Het |
| Ahnak |
A |
T |
19: 8,981,299 (GRCm39) |
D861V |
probably damaging |
Het |
| Ahnak2 |
C |
A |
12: 112,750,655 (GRCm39) |
R89L |
|
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,033,142 (GRCm39) |
L573P |
unknown |
Het |
| Ano5 |
T |
C |
7: 51,235,200 (GRCm39) |
V711A |
probably benign |
Het |
| Arl2bp |
C |
A |
8: 95,398,755 (GRCm39) |
A120D |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,038,328 (GRCm39) |
Y223H |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,490,160 (GRCm39) |
M1151K |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,271,438 (GRCm39) |
L28Q |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,868,519 (GRCm39) |
K856E |
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,600 (GRCm39) |
D94G |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,060 (GRCm39) |
I368T |
possibly damaging |
Het |
| Cdhr17 |
G |
T |
5: 17,027,213 (GRCm39) |
A379S |
|
Het |
| Cfap54 |
T |
C |
10: 92,737,920 (GRCm39) |
Q2326R |
unknown |
Het |
| Chrm3 |
T |
C |
13: 9,927,437 (GRCm39) |
Y533C |
|
Het |
| Ckap4 |
C |
T |
10: 84,363,924 (GRCm39) |
E380K |
possibly damaging |
Het |
| Cntnap2 |
T |
C |
6: 46,211,217 (GRCm39) |
F544L |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,591,695 (GRCm39) |
K596R |
probably benign |
Het |
| Cyp26c1 |
A |
G |
19: 37,681,634 (GRCm39) |
E479G |
probably damaging |
Het |
| Deup1 |
A |
G |
9: 15,493,882 (GRCm39) |
V420A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,551,523 (GRCm39) |
V2932A |
probably benign |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Eef1e1 |
A |
G |
13: 38,838,997 (GRCm39) |
L120P |
probably damaging |
Het |
| Elane |
T |
C |
10: 79,723,883 (GRCm39) |
S244P |
probably benign |
Het |
| Esp6 |
A |
G |
17: 40,876,315 (GRCm39) |
E121G |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,299,775 (GRCm39) |
E326G |
probably damaging |
Het |
| Fut2 |
G |
T |
7: 45,300,492 (GRCm39) |
N93K |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,330 (GRCm39) |
S461P |
|
Het |
| Gm12695 |
A |
G |
4: 96,651,075 (GRCm39) |
V126A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,221,469 (GRCm39) |
|
probably null |
Het |
| Hbs1l |
T |
C |
10: 21,218,304 (GRCm39) |
V267A |
probably damaging |
Het |
| Hsd17b1 |
A |
T |
11: 100,969,806 (GRCm39) |
N106I |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,393 (GRCm39) |
L939F |
probably damaging |
Het |
| Lilra6 |
A |
G |
7: 3,914,994 (GRCm39) |
W505R |
probably damaging |
Het |
| Map3k14 |
T |
A |
11: 103,118,360 (GRCm39) |
K609* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,868 (GRCm39) |
K212N |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,415,216 (GRCm39) |
C2721S |
|
Het |
| Myh4 |
A |
G |
11: 67,141,811 (GRCm39) |
D890G |
possibly damaging |
Het |
| Mylk2 |
T |
G |
2: 152,761,373 (GRCm39) |
L492R |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,729 (GRCm39) |
Y1134* |
probably null |
Het |
| N4bp2 |
G |
A |
5: 65,947,898 (GRCm39) |
G176D |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,899,707 (GRCm39) |
M325R |
probably damaging |
Het |
| Ndor1 |
C |
T |
2: 25,144,875 (GRCm39) |
|
probably null |
Het |
| Notch4 |
G |
A |
17: 34,806,667 (GRCm39) |
R1868H |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or2b2b |
A |
T |
13: 21,859,015 (GRCm39) |
V33E |
probably benign |
Het |
| Or8s16 |
T |
A |
15: 98,211,186 (GRCm39) |
N82Y |
possibly damaging |
Het |
| Oxct2a |
G |
T |
4: 123,216,441 (GRCm39) |
D313E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 37,073,546 (GRCm39) |
H392Q |
probably benign |
Het |
| Pcdhb20 |
T |
G |
18: 37,639,799 (GRCm39) |
L775R |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,840,408 (GRCm39) |
D1449G |
|
Het |
| Pcx |
A |
G |
19: 4,651,970 (GRCm39) |
T73A |
probably benign |
Het |
| Pou6f2 |
A |
G |
13: 18,314,189 (GRCm39) |
S395P |
probably benign |
Het |
| Prss35 |
C |
G |
9: 86,638,392 (GRCm39) |
I387M |
|
Het |
| Radil |
C |
A |
5: 142,471,220 (GRCm39) |
D1019Y |
probably damaging |
Het |
| Rnf40 |
G |
T |
7: 127,191,010 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
T |
5: 125,417,891 (GRCm39) |
L19Q |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,930,159 (GRCm39) |
F1457I |
|
Het |
| Sdk2 |
C |
T |
11: 113,760,744 (GRCm39) |
V339I |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,916,404 (GRCm39) |
L1182P |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,243 (GRCm39) |
S266P |
probably benign |
Het |
| Spata21 |
A |
G |
4: 140,831,316 (GRCm39) |
E421G |
probably damaging |
Het |
| Sulf1 |
C |
T |
1: 12,929,459 (GRCm39) |
P242L |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,945,105 (GRCm39) |
G11E |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,248,576 (GRCm39) |
Y1942F |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,890,243 (GRCm39) |
G1121D |
probably damaging |
Het |
| Thrap3 |
G |
T |
4: 126,070,048 (GRCm39) |
S613* |
probably null |
Het |
| Ttc34 |
A |
C |
4: 154,942,539 (GRCm39) |
K59Q |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,929,957 (GRCm39) |
L1428H |
possibly damaging |
Het |
| Ube4b |
A |
T |
4: 149,444,748 (GRCm39) |
L504Q |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,529,771 (GRCm39) |
E8V |
probably damaging |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,261 (GRCm39) |
I48F |
probably damaging |
Het |
| Vmn2r99 |
C |
A |
17: 19,598,388 (GRCm39) |
Y137* |
probably null |
Het |
| Zfp354b |
G |
A |
11: 50,814,523 (GRCm39) |
T134I |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,051,510 (GRCm39) |
V764I |
possibly damaging |
Het |
| Zfp873 |
T |
G |
10: 81,897,131 (GRCm39) |
C621G |
probably benign |
Het |
|
| Other mutations in Slc4a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00827:Slc4a4
|
APN |
5 |
89,327,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00976:Slc4a4
|
APN |
5 |
89,102,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01074:Slc4a4
|
APN |
5 |
89,327,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01120:Slc4a4
|
APN |
5 |
89,280,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01284:Slc4a4
|
APN |
5 |
89,277,532 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01375:Slc4a4
|
APN |
5 |
89,327,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Slc4a4
|
APN |
5 |
89,376,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01487:Slc4a4
|
APN |
5 |
89,376,715 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02501:Slc4a4
|
APN |
5 |
89,277,508 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03104:Slc4a4
|
APN |
5 |
89,297,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03157:Slc4a4
|
APN |
5 |
89,304,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03205:Slc4a4
|
APN |
5 |
89,297,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03356:Slc4a4
|
APN |
5 |
89,270,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03372:Slc4a4
|
APN |
5 |
89,304,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Slc4a4
|
APN |
5 |
89,376,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
camera
|
UTSW |
5 |
89,280,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pixels
|
UTSW |
5 |
89,270,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Shutter
|
UTSW |
5 |
89,373,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tetrapod
|
UTSW |
5 |
89,376,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Therapod
|
UTSW |
5 |
89,283,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tripod
|
UTSW |
5 |
89,297,192 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
BB008:Slc4a4
|
UTSW |
5 |
89,318,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB018:Slc4a4
|
UTSW |
5 |
89,318,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4515001:Slc4a4
|
UTSW |
5 |
89,281,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4544001:Slc4a4
|
UTSW |
5 |
89,186,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Slc4a4
|
UTSW |
5 |
89,186,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0052:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0054:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0055:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0230:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0234:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0234:Slc4a4
|
UTSW |
5 |
89,304,195 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0632:Slc4a4
|
UTSW |
5 |
89,277,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1199:Slc4a4
|
UTSW |
5 |
89,363,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1597:Slc4a4
|
UTSW |
5 |
89,283,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1783:Slc4a4
|
UTSW |
5 |
89,280,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Slc4a4
|
UTSW |
5 |
89,194,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1896:Slc4a4
|
UTSW |
5 |
89,194,167 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2000:Slc4a4
|
UTSW |
5 |
89,176,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Slc4a4
|
UTSW |
5 |
89,194,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Slc4a4
|
UTSW |
5 |
89,362,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Slc4a4
|
UTSW |
5 |
89,304,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2873:Slc4a4
|
UTSW |
5 |
89,283,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2995:Slc4a4
|
UTSW |
5 |
89,082,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3054:Slc4a4
|
UTSW |
5 |
89,373,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3055:Slc4a4
|
UTSW |
5 |
89,373,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3055:Slc4a4
|
UTSW |
5 |
89,280,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:Slc4a4
|
UTSW |
5 |
89,373,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Slc4a4
|
UTSW |
5 |
89,382,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3856:Slc4a4
|
UTSW |
5 |
89,380,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3863:Slc4a4
|
UTSW |
5 |
89,283,507 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3896:Slc4a4
|
UTSW |
5 |
89,345,625 (GRCm39) |
splice site |
probably benign |
|
|
R4007:Slc4a4
|
UTSW |
5 |
89,362,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Slc4a4
|
UTSW |
5 |
89,186,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Slc4a4
|
UTSW |
5 |
89,373,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Slc4a4
|
UTSW |
5 |
89,297,157 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5119:Slc4a4
|
UTSW |
5 |
89,102,721 (GRCm39) |
missense |
probably null |
0.97 |
|
R5228:Slc4a4
|
UTSW |
5 |
89,304,384 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5394:Slc4a4
|
UTSW |
5 |
89,345,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5396:Slc4a4
|
UTSW |
5 |
89,194,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5662:Slc4a4
|
UTSW |
5 |
89,176,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5664:Slc4a4
|
UTSW |
5 |
89,176,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6021:Slc4a4
|
UTSW |
5 |
89,188,261 (GRCm39) |
intron |
probably benign |
|
|
R6088:Slc4a4
|
UTSW |
5 |
89,345,563 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6337:Slc4a4
|
UTSW |
5 |
89,194,231 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6416:Slc4a4
|
UTSW |
5 |
89,327,588 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6452:Slc4a4
|
UTSW |
5 |
89,376,839 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6524:Slc4a4
|
UTSW |
5 |
89,380,623 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6566:Slc4a4
|
UTSW |
5 |
89,297,192 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6727:Slc4a4
|
UTSW |
5 |
89,318,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6844:Slc4a4
|
UTSW |
5 |
89,376,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Slc4a4
|
UTSW |
5 |
89,327,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7021:Slc4a4
|
UTSW |
5 |
89,188,205 (GRCm39) |
splice site |
probably null |
|
|
R7180:Slc4a4
|
UTSW |
5 |
89,194,095 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7197:Slc4a4
|
UTSW |
5 |
89,082,433 (GRCm39) |
intron |
probably benign |
|
|
R7246:Slc4a4
|
UTSW |
5 |
89,270,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7309:Slc4a4
|
UTSW |
5 |
89,318,610 (GRCm39) |
missense |
probably benign |
|
|
R7412:Slc4a4
|
UTSW |
5 |
89,362,506 (GRCm39) |
splice site |
probably null |
|
|
R7492:Slc4a4
|
UTSW |
5 |
89,277,509 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7561:Slc4a4
|
UTSW |
5 |
89,347,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Slc4a4
|
UTSW |
5 |
89,373,726 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7609:Slc4a4
|
UTSW |
5 |
89,283,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Slc4a4
|
UTSW |
5 |
89,376,791 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7931:Slc4a4
|
UTSW |
5 |
89,318,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7950:Slc4a4
|
UTSW |
5 |
89,206,137 (GRCm39) |
splice site |
probably null |
|
|
R8078:Slc4a4
|
UTSW |
5 |
89,327,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8313:Slc4a4
|
UTSW |
5 |
89,194,122 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8332:Slc4a4
|
UTSW |
5 |
89,327,680 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8534:Slc4a4
|
UTSW |
5 |
89,283,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Slc4a4
|
UTSW |
5 |
89,280,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Slc4a4
|
UTSW |
5 |
89,232,549 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8968:Slc4a4
|
UTSW |
5 |
89,232,512 (GRCm39) |
missense |
probably benign |
|
|
R9014:Slc4a4
|
UTSW |
5 |
89,280,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Slc4a4
|
UTSW |
5 |
89,205,568 (GRCm39) |
intron |
probably benign |
|
|
R9195:Slc4a4
|
UTSW |
5 |
89,281,055 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9236:Slc4a4
|
UTSW |
5 |
89,194,158 (GRCm39) |
nonsense |
probably null |
|
|
R9261:Slc4a4
|
UTSW |
5 |
89,347,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Slc4a4
|
UTSW |
5 |
89,376,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9401:Slc4a4
|
UTSW |
5 |
89,327,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Slc4a4
|
UTSW |
5 |
89,362,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Slc4a4
|
UTSW |
5 |
89,102,723 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Slc4a4
|
UTSW |
5 |
89,188,205 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Slc4a4
|
UTSW |
5 |
89,280,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAATGCCAGCATCCTGTCC -3'
(R):5'- AATGACCATGGCGCGTGAAC -3'
Sequencing Primer
(F):5'- AGCATCCTGTCCCTTCCCATAAAG -3'
(R):5'- CATGGCGCGTGAACTTGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation